A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv789



Internal ID15206124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80920377..80966429hg38UCSC Ensembl
Outerchr12:81314156..81360208hg19UCSC Ensembl
Outerchr12:79838287..79884339hg18UCSC Ensembl
Outerchr12:79816624..79862676hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3846053
hg1946053
hg1846053
hg1746053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6519
SamplesNA12156
Known GenesLIN7A, MIR618
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv789
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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